ArticleGenome biology2017
Evidence of reduced recombination rate in human regulatory domains.
Article in Genome biology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
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- A meta-analysis of chromatin-associated loci provides insights into mechanistic interpretations of trait heritability.bioRxiv : the preprint server for biology · 2026Article
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- Learning a pairwise epigenomic and transcription factor binding association score across the human genome.Bioinformatics (Oxford, England) · 2026Article
- A single-cell multiomics roadmap of zebrafish spermatogenesis reveals regulatory principles of male germline formation.Molecular systems biology · 2026Article
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- Exploring the omnigenic architecture of selected complex traits.American journal of human genetics · 2025Article
- ChromActivity: integrative epigenomic and functional characterization assay based annotation of regulatory activity across diverse human cell types.Genome biology · 2025Article
- Bayesian estimation of gene constraint from an evolutionary model with gene features.bioRxiv : the preprint server for biology · 2024Article
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- An encyclopedia of enhancer-gene regulatory interactions in the human genome.bioRxiv : the preprint server for biology · 2023Article
- Systematic differences in discovery of genetic effects on gene expression and complex traits.Nature genetics · 2023Article
- Single-cell multi-omics sequencing of human spermatogenesis reveals a DNA demethylation event associated with male meiotic recombination.Nature cell biology · 2023Article
- Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases.Nature genetics · 2023Article
- Bayesian estimation of gene constraint from an evolutionary model with gene features.Research square · 2023Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundRecombination rate is non-uniformly distributed across the human genome. The variation of recombination rate at both fine and large scales cannot be fully explained by DNA sequences alone. Epigenetic factors, particularly DNA methylation, have recently been proposed to influence the variation in recombination rate.
resultsWe study the relationship between recombination rate and gene regulatory domains, defined by a gene and its linked control elements. We define these links using expression quantitative trait loci (eQTLs), methylation quantitative trait loci (meQTLs), chromatin conformation from publicly available datasets (Hi-C and ChIA-PET), and correlated activity links that we infer across cell types. Each link type shows a "recombination rate valley" of significantly reduced recombination rate compared to matched control regions. This recombination rate valley is most pronounced for gene regulatory domains of early embryonic development genes, housekeeping genes, and constitutive regulatory elements, which are known to show increased evolutionary constraint across species. Recombination rate valleys show increased DNA methylation, reduced doublestranded break initiation, and increased repair efficiency, specifically in the lineage leading to the germ line. Moreover, by using only the overlap of functional links and DNA methylation in germ cells, we are able to predict the recombination rate with high accuracy.
conclusionsOur results suggest the existence of a recombination rate valley at regulatory domains and provide a potential molecular mechanism to interpret the interplay between genetic and epigenetic variations.
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